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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBAS
(S1579R)
Single nucleotide variant
(missense variant +1 more)
Infantile liver failure syndrome 2
GUncertain significance
NBAS
(K1314*)
Single nucleotide variant
(nonsense +1 more)
Infantile liver failure syndrome 2
GLikely pathogenic